{"orpha":93299,"name":"Achondrogenesis type 1A","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Achondrogenesis, Houston-Harris type"],"definition":"A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93299/","orphanet_url":"https://www.orpha.net/en/disease/detail/93299","names":{"fr":{"name":"Achondrogenèse type 1A","synonyms":["Achondrogenèse type Houston-Harris"],"definition":"L'achondrogenèse type 1A, une forme d'achondrogenèse , est une dysplasie squelettique létale très rare caractérisée par un nanisme avec des membres extrêmement courts, une poitrine étroite, de petites côtes qui se fracturent facilement, des os crâniens mous et des caractéristiques histologiques du cartilage distinctives."},"de":{"name":"Achondrogenesie Typ 1A"},"es":{"name":"Acondrogénesis tipo 1A","synonyms":["Acondrogénesis tipo Houston-Harris"],"definition":"En tipo de acondrogénesis poco frecuente y letal caracterizado por enanismo con extremidades extremadamente cortas, tórax estrecho, costillas cortas que se fracturan con facilidad, huesos craneales blandos y rasgos distintivos de la histología del cartílago."},"it":{"name":"Acondrogenesi, tipo 1A","synonyms":["Acondrogenesi, tipo Houston-Harris"]},"nl":{"name":"Achondrogenesie type 1A","synonyms":["Achondrogenesie, Houston-Harris-type"],"definition":"Een zeldzaam, letaal type van achondrogenesie, gekarakteriseerd door dwerggroei met extreem korte ledematen, smalle borstkas, korte ribben die makkelijk breken, zachte schedelbotten, en typische histologische kenmerken van kraakbeen."},"pt":{"name":"Acondrogénese tipo 1A"},"pl":{"name":"Achondrogeneza typu 1A","synonyms":["Achondrogeneza typu Houstona i Harrisa"]},"cs":{"name":"Achondrogeneze, typ 1A","synonyms":["Achondrogeneze, Houstonův-Harrisův typ","Achondrogeneze, Houston-Harrisův typ"]},"uk":{"name":"Ахондрогенез, тип 1А","synonyms":["Ахондрогенез, тип Хюстона-Харріса"],"definition":"A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage."},"zh":{"name":"软骨成长不全1A型","synonyms":["软骨成长不全，Houston-Harris型"],"definition":"一种罕见的致死性软骨发育不全，特征是侏儒症、四肢极其短小、胸腔狭窄、肋骨短并容易骨折、颅骨软和软骨独特的组织学特征。"},"tr":{"name":"Akondrogenez tipi 1A","synonyms":["Akondrogenez, Houston-Harris tipi"]}},"xrefs":[{"source":"OMIM","code":"200600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.50","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1984401402"},{"source":"MONDO","code":"0008701","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536015","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265273","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":932,"name":"Achondrogenesis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TRIP11","name":"thyroid hormone receptor interactor 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20089971[PMID]","hgnc":"12305","ensembl":"ENSG00000100815","omim":"604505","loci":["14q32.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003336","label":"Abnormal enchondral ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005716","label":"Lethal skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100541","label":"Femoral hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006640","label":"Multiple ribs fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Occasional (29-5%)","criteria":null}]}}